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NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) AND Autoimmune lymphoproliferative syndrome type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000814654.7

Allele description [Variation Report for NM_000043.6(FAS):c.695A>G (p.Tyr232Cys)]

NM_000043.6(FAS):c.695A>G (p.Tyr232Cys)

Gene:
FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys)
Other names:
Y216C
HGVS:
  • NC_000010.11:g.89014137A>G
  • NG_009089.2:g.28607A>G
  • NM_000043.6:c.695A>GMANE SELECT
  • NM_001320619.2:c.*18A>G
  • NM_152871.4:c.632A>G
  • NM_152872.4:c.*7A>G
  • NP_000034.1:p.Tyr232Cys
  • NP_690610.1:p.Tyr211Cys
  • LRG_134:g.28607A>G
  • NC_000010.10:g.90773894A>G
  • NM_000043.5:c.695A>G
  • NR_028033.4:n.602A>G
  • NR_028034.4:n.464A>G
  • NR_028035.4:n.527A>G
  • NR_028036.4:n.665A>G
  • NR_135313.2:n.582A>G
  • NR_135314.2:n.861A>G
  • NR_135315.2:n.614A>G
  • P25445:p.Tyr232Cys
Protein change:
Y211C; TYR216CYS
Links:
UniProtKB: P25445#VAR_013423; OMIM: 134637.0007; dbSNP: rs121913079
NCBI 1000 Genomes Browser:
rs121913079
Molecular consequence:
  • NM_001320619.2:c.*18A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152872.4:c.*7A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000043.6:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152871.4:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028033.4:n.602A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028034.4:n.464A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028035.4:n.527A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028036.4:n.665A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135313.2:n.582A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135314.2:n.861A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135315.2:n.614A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autoimmune lymphoproliferative syndrome type 1 (ALPS)
Synonyms:
Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0011158; MedGen: C1328840; Orphanet: 3261; OMIM: 601859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000955071Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 22, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

Wang L, Yang JK, Kabaleeswaran V, Rice AJ, Cruz AC, Park AY, Yin Q, Damko E, Jang SB, Raunser S, Robinson CV, Siegel RM, Walz T, Wu H.

Nat Struct Mol Biol. 2010 Nov;17(11):1324-9. doi: 10.1038/nsmb.1920. Epub 2010 Oct 10.

PubMed [citation]
PMID:
20935634
PMCID:
PMC2988912

An Evolution-Guided Analysis Reveals a Multi-Signaling Regulation of Fas by Tyrosine Phosphorylation and its Implication in Human Cancers.

Chakrabandhu K, Huault S, Durivault J, Lang K, Ta Ngoc L, Bole A, Doma E, Dérijard B, Gérard JP, Pierres M, Hueber AO.

PLoS Biol. 2016 Mar;14(3):e1002401. doi: 10.1371/journal.pbio.1002401.

PubMed [citation]
PMID:
26942442
PMCID:
PMC4778973
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000955071.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change interferes with the function of Fas protein (PMID: 20935634, 26942442). This variant has been observed to segregate with autoimmune lymphoproliferative syndrome in a family (PMID: 9028321). ClinVar contains an entry for this variant (Variation ID: 16503). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosin with cysteine at codon 232 of the FAS protein (p.Tyr232Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosin and cysteine

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024